PReS-FINAL-2045: Mutational analysis of sialic acid acetylesterase (siae) in juvenile idiopathic arthritis (JIA)
نویسندگان
چکیده
Introduction SIAE is involved in the maintenance of immunological tolerance through negative regulation of Β-cell receptor (BCR) signaling. Recent evidences, though conflicting, indicate that rare loss-of-function SIAE variants are associated with susceptibility to various autoimmune diseases. Advances in understanding JIA pathophysiology have led to the consensus that systemic JIA (SJIA) is an autoinflammatory disorder while oligo/polyarticular JIA (O/PJIA) is an antigen-driven lymphocytemediated autoimmune disease.
منابع مشابه
SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the ...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013